Tbio COL27A1 Collagen alpha-1(XXVII) chain

Protein Summary

Description

Plays a role during the calcification of cartilage and the transition of cartilage to bone. This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]

Uniprot Accession IDs

• Q8IZC6
• Q66K43
• Q96JF7

Gene Name

• COL27A1

Ensembl ID

• ENST00000356083
• ENSP00000348385
• ENSG00000196739

Symbol

• KIAA1870
• STLS

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
trait	0.86
transcription factor binding site profile	0.79
PubMedID	0.76
histone modification site profile	0.66
cell line	0.64

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 35.21   (req: < 5)

Gene RIFs: 17   (req: <= 3)

Antibodies: 22   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 35.21   (req: >= 5)

Gene RIFs: 17   (req: > 3)

Antibodies: 22   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0